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nicolaides-baraitser syndrome (32) 32
coffin-siris syndrome (21) 21
index medicus (20) 20
genetics & heredity (16) 16
humans (16) 16
intellectual disability (14) 14
intellectual disability - genetics (12) 12
mental-retardation (12) 12
transcription factors - genetics (12) 12
mutation (11) 11
phenotype (11) 11
swi/snf complex (11) 11
face - abnormalities (10) 10
smarca2 (10) 10
abnormalities, multiple - genetics (9) 9
facies (9) 9
female (9) 9
neck - abnormalities (9) 9
chromatin-remodeling complex (8) 8
hand deformities, congenital - genetics (8) 8
micrognathism - genetics (8) 8
mutations (8) 8
nicolaides–baraitser syndrome (8) 8
child, preschool (7) 7
arid1b (6) 6
child (6) 6
foot deformities, congenital - genetics (6) 6
genetic aspects (6) 6
genetic association studies (6) 6
hypotrichosis - genetics (6) 6
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male (6) 6
mental retardation (6) 6
nuclear proteins - genetics (6) 6
sparse hair (6) 6
abnormalities, multiple - diagnosis (5) 5
adolescent (5) 5
autism (5) 5
chromatin remodeling (5) 5
chromosomal proteins, non-histone - genetics (5) 5
coffin–siris syndrome (5) 5
de-novo mutations (5) 5
dna helicases - genetics (5) 5
gene expression (5) 5
infant (5) 5
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baf complex (4) 4
chromatin (4) 4
components (4) 4
dna-binding proteins - genetics (4) 4
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hand deformities, congenital - diagnosis (4) 4
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intellectual disability - etiology (4) 4
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natural history (4) 4
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smarcb1 (4) 4
abnormalities, multiple - etiology (3) 3
adenosine triphosphatase (3) 3
analysis (3) 3
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complex (3) 3
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abnormalities, multiple - pathology (2) 2
alleles (2) 2
amino acid substitution (2) 2
arid1a (2) 2
arid2 (2) 2
autism spectrum disorders (2) 2
baf-complex (2) 2
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 09/2014, Volume 166, Issue 3, pp. 333 - 349
The BAF (mammalian SWI/SNF) complexes are a family of multi‐subunit ATP‐dependent chromatin remodelers that use ATP hydrolysis to alter chromatin structure.... 
BAF | mammalian SWI/SNF | chromatin remodeling | microRNA | neural development | schizophrenia | Coffin–Siris syndrome | Nicolaides–Baraitser syndrome | intellectual disability | autism | Autism | Intellectual disability | MicroRNA | Nicolaides-Baraitser syndrome | Schizophrenia | Mammalian SWI/SNF | Coffin-siris syndrome | Chromatin remodeling | Neural development | mammalian SWI | SWI/SNF COMPLEXES | Coffin-Siris syndrome | PUTATIVE PHEROMONE RECEPTORS | SELF-RENEWAL | SNF | SUBVENTRICULAR ZONE | PROGENITOR-CELL | CHROMATIN-REMODELING COMPLEX | DE-NOVO MUTATIONS | GENETICS & HEREDITY | MULTIGENE FAMILY | CELL-CYCLE | MULTIPLE ASPECTS | Yeasts | Face - abnormalities | Humans | Actins - metabolism | Actins - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | DNA-Binding Proteins - metabolism | Schizophrenia - genetics | Dendrites - physiology | Neurons - physiology | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | STAT3 Transcription Factor - metabolism | Chromosomal Proteins, Non-Histone - metabolism | Micrognathism - genetics | Chromatin Assembly and Disassembly | Nuclear Proteins - metabolism | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mammals | Chromosomal Proteins, Non-Histone - genetics | Multiprotein Complexes - physiology | Transcription Factors - metabolism | Animals | Hand Deformities, Congenital - genetics | Child Development Disorders, Pervasive - genetics | Neurogenesis - physiology | Stem Cells - physiology | Mice | Drosophila Proteins - genetics | Evolution, Molecular | Memory - physiology | Hydrolysis | Embryonic stem cells | Nervous system diseases
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2019, Volume 179, Issue 5, pp. 808 - 812
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2013, Volume 161, Issue 6, pp. 1221 - 1237
Journal Article
American journal of medical genetics. Part C, Seminars in medical genetics, ISSN 1552-4868, 2014, Volume 166, Issue 3, pp. 302 - 314
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2662 - 2670
Journal Article
Brain & Development, ISSN 0387-7604, 2014, Volume 37, Issue 5, pp. 527 - 536
Journal Article
Neuropediatrics, ISSN 0174-304X, 02/2020, Volume 51, Issue 1, pp. 049 - 052
Abstract Nicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia... 
Short Communication | SMARCA2 mutation | cooccurrence of two genetic diseases | POLG1-related effect | GENOTYPE | POLYMERASE GAMMA | Nicolaides-Baraitser syndrome | PEDIATRICS | valproic acid hepatotoxicity | CLINICAL NEUROLOGY | Index Medicus
Journal Article
Molecular Syndromology, ISSN 1661-8769, 04/2012, Volume 2, Issue 6, pp. 237 - 244
Using high-resolution molecular karyotyping with SNP arrays to identify candidate genes for etiologically unexplained intellectual disability, we identified a... 
Original Article | Nicolaides-Baraitser syndrome | Short stature | Intellectual disability | SMARCA2 | Sparse hair | Original
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 934 - 941
Journal Article
Journal Article